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Porokeratosis of Mibelli

Written2008-06Daniele Torchia
Department of Dermatological Sciences, Department of Experimental Pathology, Oncology, University of Florence, 50121 Florence, Italy

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Atlas_Id 10106
Genes implicated in--  
Note Porokeratosis (PK) is a term encompassing a group of uncommon diseases of keratinization, presenting with varying clinical aspects but sharing a common histopathological aspect, i.e. the presence of the "cornoid lamella".
Inheritance PK is thought to be the phenotypic expression of a common genetic disorder that may be inherited as an autosomal dominant trait with partial penetrance or, most often, result from somatic mutations.


Phenotype and clinics After the first descriptions made by Mibelli and Respighi in 1893, a bewildering number of PK variants has been described.
The main PK types can be divided clinically into :
1) localized forms, which include classic (or plaque-type), linear (LPK) and punctate; and
2) disseminated forms, which include disseminated superficial PK (DSP), disseminated superficial actinic PK (DSAP, the commonest form) and PK palmaris, plantaris et disseminata (PPPD).
Localized forms typically feature few acral papules that slowly enlarge in a centrifugal fashion till becoming a prominent plaque with an atrophic center and a raised, "M"-shaped section border. Instead, disseminate forms are characterized by many papules scattered on large cutaneous areas and enlarging to superficial and annular plaques with a thin border. PK is most often asymptomatic and progresses slowly: lesions increase in size and number over the years, but on rare occasions may undergo inflammatory changes and regress spontaneously.
PK may be induced by immunosuppression, particularly in Iatrogenic conditions (organ transplantation, drug intake). An association with craniosynostosis and anal anomalies (CAP syndrome) has been described.
The histological examination, often required to confirm the diagnosis, shows an hallmark feature, i.e. an oblique column of parakeratosis within the epidermal stratum corneum that points away from the center of the lesion (so called "cornoid lamella").
Neoplastic risk It has been estimated that 6.9% to 11.6% of PK cases will undergo malignant transformation into Bowen's disease, basal-cell carcinomas and squamous-cell carcinomas of the skin. The most prone variant is LPK. The latency average is more than 30 years. Metastatic disease has been very rarely reported.
Treatment PK is often refractory to treatment and no adequate clinical trials are available. Localized lesions may be removed by surgical excision, cryotherapy, laser and dermabrasion. Uncontrolled reports have noted varying responses to topical corticosteroids, tretinoin, calcipotriol and 5-fluorouracil. Systemic etretinate and corticosteroids have been used. Photoprotection is recommended in patients with DSAP.


Note Cultured fibroblasts derived from PK lesions exhibited instability of the short arm of chromosome 3, as well as numerous rearrangements and clone formation.
Abnormal clones with abnormal DNA ploidy have been demonstrated within the cornoid lamella.

Genes involved and Proteins

Note No genes have been demonstrated to cause PK to date.
Two genetic loci for other two subtypes of PK were also mapped, one for DSP on 18p11.3 and one for PPPD on 12q24.1-24.2 .


Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT.
J Med Genet. 1998 Sep; 35(9): 763-6.
PMID 9733036
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?
Frank J, van Steensel MA, van Geel M.
Hum Mutat. 2007 Dec; 28(12): 1241-2.
PMID 17621637
Porokeratosis and immunosuppression.
Kanitakis J, Euvrard S, Faure M, Claudy A.
Eur J Dermatol. 1998 Oct-Nov; 8(7): 459-65. (REVIEW)
PMID 9854155
Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1.
Liu P, Zhang S, Yao Q, Liu X, Wang X, Huang C, Huang X, Wang P, Yuan M, Liu JY, Wang QK, Liu M.
Hum Genet. 2008 Jun ;123(5): 507-13.
PMID 18443824
Porokeratosis has neoplastic clones in the epidermis: microfluorometric analysis of DNA content of epidermal cell nuclei.
Otsuka F, Shima A, Ishibashi Y
J Invest Dermatol. 1989 May; 92(5 Suppl): 231S-3S.
PMID 2715656
Porokeratosis and malignant skin tumors.
Otsuka F, Someya T, Ishibashi Y.
J Cancer Res Clin Oncol. 1991; 117(1): 55-60.
PMID 1997471
Porokeratosis and cutaneous malignancy. A review.
Sasson M, Krain AD.
Dermatol Surg. 1996 Apr; 22(4): 339-42. (REVIEW)
PMID 8624658
Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli.
Scappaticci S, Lambiase S, Orecchia G, Fraccaro M.
Cancer Genet Cytogenet. 1989 Nov; 43(1): 89-94.
PMID 2790776
Porokeratosis of Mibelli. Overview and review of the literature.
Schamroth JM, Zlotogorski A, Gilead L.
Acta Derm Venereol. 1997 May;77(3):207-13. (REVIEW)
PMID 9188872
Chromosomal instability associated with susceptibility to malignant disease in patients with porokeratosis of Mibelli.
Taylor AM, Harnden DG, Fairburn EA.
J Natl Cancer Inst. 1973 Aug; 51(2): 371-8.
PMID 4765365
A novel locus for disseminated superficial porokeratosis maps to chromosome 18p11.3
Wei S, Yang S, Lin D, Li M, Zhang X, Bu L, Zheng G, Hu L, Kong X, Zhang X.
J Invest Dermatol. 2004 Nov; 123(5): 872-5.
PMID 15482473
Identification of a locus for porokeratosis palmaris et plantaris disseminata to a 6.9-cM region at chromosome 12q24.1-24.2.
Wei SC, Yang S, Li M, Song YX, Zhang XQ, Bu L, Zheng GY, Kong XY, Zhang XJ.
Br J Dermatol. 2003 Aug; 149(2): 261-7.
PMID 12932230
Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.
Xia JH, Yang YF, Deng H, Tang BS, Tang DS, He YG, Xia K, Chen SX, Li YX, Pan Q, Long ZG, Dai HP, Liao XD, Xiao JF, Liu ZR, Lu CY, Yu KP, Deng HX.
J Invest Dermatol. 2000 Jun; 114(6): 1071-4.
PMID 10844547
A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1.
Xia K, Deng H, Xia JH, Zheng D, Zhang HL, Lu CY, Li CQ, Pan Q, Dai HP, Yang YF, Long ZG, Deng HX.
Br J Dermatol. 2002 Oct; 147(4): 650-4.
PMID 12366408
Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis.
Zhang Z, Niu Z, Yuan W, Liu W, Xiang L, Zhang J, Chu X, Zhao J, Jiang F, Chai B, Cui F, Wang Y, Zhang K, Wang Y, Xu S, Xia L, Gu J, Zhang S, Meng X, Wang S, Gao S, Fan M, Nie L, Zheng Z, Huang W.
Hum Mutat. 2004 Nov; 24(5): 438.
PMID 15459975
A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.
Zhang ZH, Niu ZM, Yuan WT, Zhao JJ, Jiang FX, Zhang J, Chai B, Cui F, Chen W, Lian CH, Xiang LH, Xu SJ, Liu WD, Zheng ZZ, Huang W.
Br J Dermatol. 2005 Apr; 152(4): 658-63.
PMID 15840095


This paper should be referenced as such :
Torchia, D
Porokeratosis of Mibelli
Atlas Genet Cytogenet Oncol Haematol. 2009;13(6):453-454.
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OrphanetPorokeratosis of Mibelli
Other databasePorokeratosis of Mibelli (GARD)
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